POS1365 THE FMF&amp;AID SURVEY - A PATIENT ORGANIZATION DRIVEN SURVEY FOR AUTOINFLAMMATORY DISEASES
Authors: J. Rech, K. Tascilar, A. Tufan, M. Gattorno, J. B. Kuemmerle-Deschner, S. Ozen, T. Krickau, E. Cohen, L. Oliveira Mendonca, A. Kontzias, M. Vetterli
Journal: Annals of the Rheumatic Diseases (2022)

Background Autoinflammatory diseases (also referred to as hereditary periodic fever syndromes) are caused by defects in the innate immune system. Many autoinflammatory syndromes arise from inherited genetic mutations which begin in childhood and persist throughout adult life. These diseases are often present in several members and generations within a family. Newer research also reflects that, cases can often present at any age through-out childhood, teenage years, and even into older adulthood. These cases appear to be acquired, perhaps due to the interplay of genetic, immune, and environmental factors (somaticism). It is not uncommon that a patient is diagnosed with rheumatoid arthritis, multiple sclerosis or another autoimmune issue, as many physicians are not aware of monogenic inborn errors, nor how to conduct a thorough work up due to a lack of medical knowledge. Objectives Unfortunately, the knowledge base that many doctors have with regards to autoinflammatory genetic diseases is minimal to non-existent, when compared to the well-established expertise of autoimmune disease management. Concerns about the increasing patient accounts detailing lack of medical diagnosis, treatment, and pain management, lead to the important decision to collect further data from the autoinflammatory patient community. The aim of the survey responses collected, and post data aggregation will help identity patient trends and use this information to educate and increase awareness amongst the medical community as to the unmet diagnostic and treatment requirements for the autoinflammatory population. Methods A questionnaire comprised of thirty questions was developed by members of the patient organization FMF &amp; AID Global Association (Executive Director, Malena Vetterli with Research Director, H. Ellen Cohen) under the guidance of Dr. med. Juergen Rech focused on collecting basic information (e.g. age, country, onset and duration of symptoms, pain and fatigue). The survey was published at the end of 2020 on social media (Facebook) and on the FMF&amp;AID website ( www.fmfandaid.org ). Participation was voluntary and the patients agreed that the anonymised response information of the survey may be evaluated and published. This international survey was approved by the ETHICS Committee FAU in Erlangen-Nuremberg, Germany. Results Worldwide, over a thousand patients or parents/caregivers of patients (younger than 18 years) in fifty-two countries took part in this survey and answered the questionnaire. Eighty percent (80%) of the participants had already been diagnosed with an autoinflammatory disease. However, despite classic periodic symptom presentation, twenty percent (20%) of the participants were still without a concise diagnosis. FMF - forty-three percent (43%) was cited as the most common diagnosis and M. Behçet thirty percent (30%) as the second, with a variety of others (e.g. PFAPA, CAPS, HIDS, TRAPS, DADA, Yao syndrome, and uSAID). The minimum age at diagnosis ranged from 1 to 70+ years old with an average age of 33 years when properly diagnosed. Three-hundred and nine (309) patients reported that their pain had not been taken seriously and adequately treated in the past. Pain and fatigue, as measured by the standard visual analogue scale (VAS 0-10), was high in the past 30 and 7 days, respectively. VAS pain 30 days was 4.8 (SD +/-2.7) or 7 days with 4.2 (SD +/- 3), as well as fatigue VAS 30 days 5.7 (SD +/- 2.8) or fatigue VAS 7 days with 5.5 (SD +/- 3). Conclusion One-fifth of patients with classic symptoms of autoinflammatory diseases remain undiagnosed and therefore not specifically treated. Although, the rest of the participants eighty percent (80%) have a diagnosis of an autoinflammatory disease, therapy does not appear to be sufficient to manage their wide-ranging and debilitating symptoms, in particular pain and fatigue. Patients continue to carry the burden of receiving mental diagnosis vs actual medical diagnosis and are still forced to seek additional medical support, often incurring travel or relocation costs to obtain proper care. Disclosure of Interests Jürgen Rech Speakers bureau: Abbvie, Biogen, BMS, Chugai, GSK, Lilly, MSD; Novartis, Roche, Sanofi, Sobi, UCB, Consultant of: Biogen, BMS, Chugai, GSK, Lilly, MSD, Novartis, Roche, Sanofi, Sobi, UCB, Grant/research support from: Novartis, Sobi, Koray Tascilar: None declared, Abdurrahman Tufan: None declared, Marco Gattorno: None declared, J. B. Kuemmerle-Deschner: None declared, Seza Ozen: None declared, Tobias Krickau: None declared, Ellen Cohen: None declared, Leonardo Oliveira Mendonca: None declared, Apostolos Kontzias: None declared, Malena Vetterli: None declared